If the mutation to be tested in this individual is one previously identified in an affected family member, please order test (#2511). Please see detailed requirements under this test code.

NOTE: TMLHE Biochemical Analysis (test codes #4135, #4145 or #4155) should be performed prior to molecular analysis. Deletion/Duplication Analysis (test code #2513) should be performed prior to or concurrent with TMLHE Sequence Analysis (test code #2510). Deletion/duplication analysis analyzes for deletions involving exon 2 of the TMLHE gene which are the most common cause of TMLHE deficiency.